Overview

Nail patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Other areas of the body may also be affected, particularly the eyes and kidneys. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.[1] This condition is transmitted in an autosomal dominant fashion and results from mutations in the LMX1B gene.[1][2] Treatment is symptomatic and supportive.[2][3]

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In Depth Information

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Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

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